Differential expression of SNX29P1 in amyotrophic lateral sclerosis.

Abstract: Neurodegenerative diseases that affect the motor neurons, including amyotrophic lateral sclerosis (ALS), have little treatment options and are generally rapidly fatal (1, 2). We harnessed the power of unbiased, whole transcriptome differential gene expression analysis, utilizing primary patient cells and tissues to discover genes whose expression defines ALS using published and public data (3, 4). We found significant differential expression of SNX29P1, encoding sorting nexin 29 pseudogene 1, in primary fibroblasts of patients with sporadic ALS (sALS). SNX29P1 was also differentially expressed in the induced pluripotent stem cell (iPSC)-derived motor neurons of patients with familial ALS. SNX29P1 transcript was present at significantly lower levels in sALS patient fibroblasts. These analyses will begin to define the transcriptional landscape of sporadic ALS.